Varaico: Literature-Extracted Genetic Variants

Gene:COQ8A
Variant:p.D286G
Back to variants list

COQ8A

NM_020247.5:p.D286G

Associated Papers

Mutations in COQ8B (ADCK4) found in patients with steroid-resistant nephrotic syndrome alter COQ8B function.

Vazquez Fonseca L et al.

Human Mutation, 2018

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."